peroxisome biogenesis disorder 3A

Peroxisome biogenesis disorder 3A, also known as Zellweger syndrome, is a rare and severe genetic disorder that affects the development and function of peroxisomes in the body.

Characteristics:

• Autosomal recessive inheritance pattern [5]
• Disordered peroxisome biogenesis [5]
• Affects multiple systems in the body, including the nervous system, liver, kidneys, and eyes [4]

Clinical Features:

• Flat face
• High forehead
• Wide nasal bridge
• Increased circulating very long-chain fatty acid concentration
• Vascular dilatation
• Feeding difficulties, such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during feeding [1]
• Corneal clouding, cataracts, glaucoma, optic atrophy, and retinal anomalies in the eyes [6]

Symptoms:

• Severe neurologic dysfunction with profound developmental delay
• Liver disease
• Kidney problems

Prognosis: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum [9]

Clinical Features of Peroxisome Biogenesis Disorder 3A (PBD3A)

Peroxisome biogenesis disorder 3A, also known as Zellweger syndrome, is a rare genetic disorder characterized by the absence or malfunctioning of peroxisomes in cells. The clinical features of PBD3A can vary in severity and may include:

• Distinctive Facial Features: A flattened face, broad nasal bridge, high forehead, and other characteristic craniofacial anomalies [2][5].
• Feeding Difficulties: Infants with PBD3A often experience feeding difficulties due to poor suck and hepatomegaly (enlarged liver) [1][4].
• Hypotonia and Seizures: Affected children may present in the newborn period with profound hypotonia (low muscle tone), seizures, and inability to feed [3][8].
• Vascular Dilatation: Increased circulating very long-chain fatty acid concentration can lead to vascular dilatation [4].

These symptoms are due to the severe mutations in PEX genes that result in lack of peroxisomal biogenesis and absent or empty peroxisomes [7]. The disorders may be classified as those of biogenesis, single enzyme deficiencies, or contiguous gene syndromes [8].

References:

[1] Context 4 [2] Context 2 [3] Context 3 [4] Context 4 [5] Context 5 [7] Context 7 [8] Context 8

Diagnostic Tests for Peroxisome Biogenesis Disorder 3A (PBD3A)

Peroxisome biogenesis disorder 3A, also known as Zellweger syndrome spectrum, is a rare genetic disorder that affects the body's ability to break down fatty acids and other substances. Diagnostic tests are essential to confirm the presence of this condition.

Clinical Genetic Tests

• Bioarray offers clinical genetic testing for PBD3A, which includes testing genes such as PEX12 (17q12) [1].
• Intergen also provides clinical genetic testing for PBD3A, including testing genes like PEX12 (17q12) [2].

Biochemical Testing

• The recommended first-tier biochemical testing for peroxisomal disorders analyzes very long-chain fatty acids, which can help diagnose PBD3A [5].
• This panel also has the ability to diagnose related peroxisomal disorders such as D [6].

Genetic Tests

• Genetic tests related to Peroxisome Biogenesis Disorder 3a are available, including testing for genes like PEX12 [7][11].

Other Diagnostic Tests

• Standard local genetic testing and nationally commissioned testing should have been completed before undertaking further testing for this phenotype [9].
• The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum is also available [8].

It's worth noting that no single test is sufficient to diagnose all peroxisomal disorders, and the selection of laboratory studies is based on the clinical presentation [4].

Treatment Options for Peroxisome Biogenesis Disorder 3A

Peroxisome biogenesis disorders (PBDs) are a group of rare genetic conditions that affect the functioning of peroxisomes, which are organelles found in cells. PBD-3A is one such condition.

While there is no cure for PBD-3A, various treatment options can help manage its symptoms and improve quality of life. Here are some of the available treatment options:

• Cholbam: Cholbam is a medication that has been approved by the FDA to treat peroxisomal disorders, including PBD-ZSD (a related condition). It works by helping to break down toxic substances in the body.
• Dietary modifications: A diet low in phytanic acid can be beneficial for individuals with PBD-3A. Phytanic acid is a fatty acid that can accumulate in the body and cause harm.
• Multidisciplinary management: Treatment for PBD-3A often involves a team of healthcare professionals, including doctors, nurses, and other specialists. This multidisciplinary approach helps to manage various symptoms and complications associated with the condition.

It's essential to note that each individual with PBD-3A may have unique needs and requirements. A healthcare professional can work with the patient and their family to develop a personalized treatment plan.

References:

• [1] Cholbam has been shown to improve liver chemistries and reduce toxic bile in patients with ZSDs (by JN Anderson, 2021) [4]
• [2] A diet low in phytanic acid has been successful in the treatment of ARD (by SJ Steinberg, 2006) [7]
• [3] Management is multidisciplinary, symptomatic, and based on surveillance of the multiple systems affected by PBD (by C Argyriou, 2016) [3]

Note: The above information is based on the search results provided in the context.

Peroxisome Biogenesis Disorder 3A (PBD3A) Differential Diagnosis

Peroxisome Biogenesis Disorder 3A, also known as Zellweger Syndrome, is a rare genetic disorder characterized by the absence or malfunction of peroxisomes in cells. The differential diagnosis for PBD3A involves considering other conditions that may present with similar symptoms.

Conditions to Consider:

• Zellweger Spectrum Disorder: This condition is a continuum of disorders caused by mutations in the PEX genes, which are responsible for peroxisome biogenesis. It can range from mild (RCDP) to severe (Zellweger Syndrome).
• Rhizomelic Dystrophic Cerebral Dysmyelination (RCDP): This is a milder form of Zellweger Spectrum Disorder, characterized by abnormalities in the brain and spinal cord.
• Neonatal Adrenoleukodystrophy: A rare genetic disorder that affects the adrenal glands and nervous system.

Key Features to Consider:

• Absence or malfunction of peroxisomes: This is a hallmark feature of PBD3A, but can also be present in other conditions.
• Neurological symptoms: Such as seizures, developmental delays, and muscle weakness.
• Cerebral white matter disease: A characteristic feature of Zellweger Spectrum Disorder.

Differential Diagnosis Considerations:

When considering a differential diagnosis for PBD3A, it is essential to rule out other conditions that may present with similar symptoms. This includes:

• Genetic testing: To confirm the presence of mutations in the PEX genes.
• Imaging studies: Such as MRI or CT scans, to evaluate the extent of cerebral white matter disease.

References:

• [8] by PG Barth · 2001 · Cited by 61 — Peroxisome biogenesis disorder should be included in the differential diagnosis of post-infantile onset of cerebral white matter disease.
• [9] by BT Poll-The · 2012 · Cited by 59 — When the group of patients suffering from a disorder of peroxisome biogenesis is taken together, roughly three profiles can be distinguished which should ...